Canonical Allele Identifier: CA394187931

Gene: GNPTG

Linked Data

• dbSNP Id: rs1596614391
• MyVariant Identifiers: chr16:g.1412304A>C (hg19) ; chr16:g.1362303A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362303A>C , CM000678.2:g.1362303A>C	GRCh38
NC_000016.9:g.1412304A>C , CM000678.1:g.1412304A>C	GRCh37
NC_000016.8:g.1352305A>C	NCBI36
NG_016985.1:g.15405A>C
NG_033129.1:g.57402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.608A>C
ENST00000529110.2:c.593A>C	ENSP00000435349.2:p.His198Pro
ENST00000529957.6:n.567A>C
ENST00000683366.1:c.*241A>C	ENSP00000507283.1:n.*241A>C
ENST00000683887.1:c.557A>C	ENSP00000506886.1:p.His186Pro
ENST00000684100.1:n.503A>C
ENST00000684126.1:n.567A>C
ENST00000684688.1:n.1134A>C
ENST00000204679.9:c.509A>C MANE Select	ENSP00000204679.4:p.His170Pro
ENST00000204679.8:c.509A>C	ENSP00000204679.4:p.His170Pro
ENST00000527076.1:n.1525A>C
ENST00000527168.5:n.545A>C
ENST00000529957.5:n.608A>C
NM_032520.4:c.509A>C	NP_115909.1:p.His170Pro
XM_017023782.1:c.557A>C	XP_016879271.1:p.His186Pro
XM_017023783.1:c.149A>C	XP_016879272.1:p.His50Pro
NM_032520.5:c.509A>C MANE Select	NP_115909.1:p.His170Pro